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Hot Topics of the Day|PHGKB
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02/10/2020

Hot Topics of the Day are picked by experts to capture the latest information and publications on public health genomics and precision health for various diseases and health topics. Sources include published scientific literature, reviews, blogs and popular press articles.

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Archived Hot Topics of the Day By Date

Smartphones vs Wearable Devices for Remotely Monitoring Physical Activity After Hospital Discharge
MS Patel et al, JAMA Network Open, February 2020

Nearly 80% of US adults own a smartphone,1 which accurately tracks physical activity. Wearable devices are growing in adoption and can track other biometrics.The objective of this study was to compare the duration of remotely monitoring physical activity from smartphones vs wearables in the 6 months after hospital discharge.

Pan-genomics in the human genome era
RM Sherman et al, Nature Review Genetics, February 2020

As scientists continue to survey and catalogue the genomic variation across human populations and begin to assemble a human pan-genome, these efforts will increase our power to connect variation to human diversity, disease and beyond.

Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations
Genetics in Medicine, February 10, 2020

Five hundred inherited retinal disease patients were analyzed with targeted next-generation sequencing.Likely disease-causing single-nucleotide variants (SNVs) and small indels were found in 55.6% of subjects. PVs in USH2A (11.6%), RPGR (4%), and EYS (4%) were the most common.

The Cardiac Genome Clinic: implementing genome sequencing in pediatric heart disease
MS Reuter et al, Genetics in Medicine, February 10, 2020

We analyzed genome sequencing data of 111 families with cardiac lesions for rare, disease-associated variation. In 14 families (12.6%), we identified causative variants: seven were de novo (ANKRD11, KMT2D, NR2F2, POGZ, PTPN11, PURA, SALL1) and six were inherited from parents with no or subclinical heart phenotypes.


Disclaimer: Articles listed in Hot Topics of the Day are selected by Public Health Genomics Branch to provide current awareness of the scientific literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the Clips, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
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